Evidence Details for ARHGAP11B
Basic Information Top
| Gene Symbol: | ARHGAP11B ( B'-T,FAM7B1,MGC104367 ) |
|---|---|
| Gene Full Name: | Rho GTPase activating protein 11B |
| Band: | 15q13.2 |
| Quick Links | Entrez ID:89839; OMIM: NA; Uniprot ID:RHGBB_HUMAN; ENSEMBL ID: ENSG00000187951; HGNC ID: 15782 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ARHGAP11B|89839|nucleotide
ATGTGGGATCAGAGGCTGGTGAAGTTGGCCCTGTTGCAGCATCTGCGGGCCTTCTATGGTATTAAGGTGAAGGGTGTCCGTGGGCAGTGCGATCGCAGGAGACAT
GAAACAGCAGCCACGGAAATAGGGGGTAAAATATTTGGAGTACCTTTTAATGCACTGCCCCATTCTGCTGTACCAGAATATGGACACATTCCAAGCTTTCTTGTC
GATGCTTGCACATCTTTAGAAGAACATATTCATACCGAAGGGCTTTTTCGGAAATCAGGATCTGTGATTCGCCTAAAAGCACTAAAGAATAAAGTGGATCATGGT
GAAGGTTGCCTATCTTCTGCACCTCCTTGTGATATTGCGGGACTTCTTAAGCAGTTTTTTAGGGAACTGCCAGAGCCCATTCTCCCAGCTGATTTGCATGAAGCA
CTTTTGAAAGCTCAACAGTTAGGCACAGAGGAAAAGAATAAAGCTATACTGTTGCTCTCCTGTCTTCTGGCTGACCACACAGTTCATGTATTAAGATACTTCTTT
AACTTTCTCAGGAATGTTTCTCTTAGATCCAGTGAGAATAAGATGGATAGCAGCAATCTTGCAGTAATATTTGCACCAAATCTTCTTCAGACAAGTGAAGGACAT
GAAAAGATGTCTTCTAACGCAGAAAAGAAGGGCGTGTACCAGACTTTATCCTGGAAAAGATACCAGCCATGTTGGGTATTGATGGTCTCTGTGCTACTCCATCAC
TGGAAGGCTTTGAAGAAGGTGAATATGAAACTCCTGGTGAATATAAGAGAAAGAGAAGACAACGTGTAG
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ATGTGGGATCAGAGGCTGGTGAAGTTGGCCCTGTTGCAGCATCTGCGGGCCTTCTATGGTATTAAGGTGAAGGGTGTCCGTGGGCAGTGCGATCGCAGGAGACAT
GAAACAGCAGCCACGGAAATAGGGGGTAAAATATTTGGAGTACCTTTTAATGCACTGCCCCATTCTGCTGTACCAGAATATGGACACATTCCAAGCTTTCTTGTC
GATGCTTGCACATCTTTAGAAGAACATATTCATACCGAAGGGCTTTTTCGGAAATCAGGATCTGTGATTCGCCTAAAAGCACTAAAGAATAAAGTGGATCATGGT
GAAGGTTGCCTATCTTCTGCACCTCCTTGTGATATTGCGGGACTTCTTAAGCAGTTTTTTAGGGAACTGCCAGAGCCCATTCTCCCAGCTGATTTGCATGAAGCA
CTTTTGAAAGCTCAACAGTTAGGCACAGAGGAAAAGAATAAAGCTATACTGTTGCTCTCCTGTCTTCTGGCTGACCACACAGTTCATGTATTAAGATACTTCTTT
AACTTTCTCAGGAATGTTTCTCTTAGATCCAGTGAGAATAAGATGGATAGCAGCAATCTTGCAGTAATATTTGCACCAAATCTTCTTCAGACAAGTGAAGGACAT
GAAAAGATGTCTTCTAACGCAGAAAAGAAGGGCGTGTACCAGACTTTATCCTGGAAAAGATACCAGCCATGTTGGGTATTGATGGTCTCTGTGCTACTCCATCAC
TGGAAGGCTTTGAAGAAGGTGAATATGAAACTCCTGGTGAATATAAGAGAAAGAGAAGACAACGTGTAG
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>ARHGAP11B|89839|protein
MWDQRLVKLALLQHLRAFYGIKVKGVRGQCDRRRHETAATEIGGKIFGVPFNALPHSAVPEYGHIPSFLVDACTSLEEHIHTEGLFRKSGSVIRLKALKNKVDHG
EGCLSSAPPCDIAGLLKQFFRELPEPILPADLHEALLKAQQLGTEEKNKAILLLSCLLADHTVHVLRYFFNFLRNVSLRSSENKMDSSNLAVIFAPNLLQTSEGH
EKMSSNAEKKGVYQTLSWKRYQPCWVLMVSVLLHHWKALKKVNMKLLVNIREREDNV
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MWDQRLVKLALLQHLRAFYGIKVKGVRGQCDRRRHETAATEIGGKIFGVPFNALPHSAVPEYGHIPSFLVDACTSLEEHIHTEGLFRKSGSVIRLKALKNKVDHG
EGCLSSAPPCDIAGLLKQFFRELPEPILPADLHEALLKAQQLGTEEKNKAILLLSCLLADHTVHVLRYFFNFLRNVSLRSSENKMDSSNLAVIFAPNLLQTSEGH
EKMSSNAEKKGVYQTLSWKRYQPCWVLMVSVLLHHWKALKKVNMKLLVNIREREDNV
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 3 (21) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 8 (22) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Wolpert, 2000 | - | STS mapping |  |  | autism | 3 | - | 3 | - | 3 | - | 3 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Silva, 2002 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Keller, 2003 | USA | FISH | | | ASD | - | - | - | - | 2 | - | 2 |
| Sahoo, 2005 | USA | aCGH | | | autism | - | - | - | - | 9 | - | 9 |
| Jacquemont, 2006 | France | aCGH | | | ASD | - | - | - | - | 29 | - | 29 |
| Kwasnicka-Crawford, 2007 | - | STS mapping | | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2007 | USA | FISH | | | PDD | - | - | - | - | 104 | - | 104 |
| Sebat, 2007 | USA | aCGH | | | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Weiss, 2008 | USA, Ireland | aCGH, SNP microarray | | | ASD | 751 | - | - | - | 2252 | 23502 | 25754 |
| Pagnamenta, 2009 | - | SNP microarray | | | autism, ASD | - | - | - | - | 3 | - | 3 |
| Miller, 2009 | USA | aCGH | | | ASD | 751 | - | 751 | - | 1441 | 1552 | 2993 |
| Gregory, 2009 | USA | aCGH | | | ASD | - | - | - | - | 119 | 54 | 173 |
| Bremer, 2009 | - | aCGH | | | ASD | - | - | - | - | 148 | - | 148 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Chilian B, 2013 | Germany | FISH | - | - | - | - | - | - | - | 1 | - | 1 |
| Bacchelli E, 2015 | Italian | aCGH;qPCR | | | autism | 133 | - | - | - | 135 | 174 | 309 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.